Y289H (p.Tyr289His) variant of LPL (Lipoprotein lipase)
Y289H (p.Tyr289His) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperlipoproteinemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and published literature.
Y289H (p.Tyr289His) variant details
- p.Tyr289His
- rs1161884343
- UniProt VAR 057934
- gnomAD rs1161884343
- Likely pathogenic
- Hyperlipoproteinemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 24.80
- PolyPhen-2 0.18
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyperlipoproteinemia, type I)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency… (PMID 8728326)
- Cited in: Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a… (PMID 10660334)